This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene.


Assay type: Deep/Sanger Sequencing; High resolution melting
What is analyzed: Mutational analysis of exon 2 and 3
Platform: MiSeq (Illumina), LightCycler 480 (Roche), Genetic Analyzer 3500 (ABI)
Kit/antibody: High Resolution Melting Master (Roche); Big Dye Terminator v1.1 Cycle Sequencing Kit (ABI)
Tissue Type: Lung carcinoma
Required material: FFPE tissue; DNA